Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Janice Pacheco Dias, Padilha"'
Autor:
Helena, Fussiger, Bruna Letícia da Silva, Pereira, Janice Pacheco Dias, Padilha, Karina Carvalho, Donis, Marina, Siebert, Ana Carolina, Brusius-Facchin, Guilherme, Baldo, J B, Oliveira
Publikováno v:
Clinical Genetics. 103:580-584
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in SPAST and ATL1 and to
Autor:
Karina Carvalho Donis, Pablo Brea Winckler, Alice Maria Luderitz Hoefel, Janice Pacheco Dias Padilha, Ana Carolina Brusius Facchin, Carolina Serpa Brasil, Jonas Alex Morales Saute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::578528a32016e021bce545cc9c64dbc5
https://doi.org/10.1111/cge.13793/v2/response1
https://doi.org/10.1111/cge.13793/v2/response1
Autor:
Carolina Serpa Brasil, Alice Maria Luderitz Hoefel, Jonas Alex Morales Saute, Janice Pacheco Dias Padilha, Pablo Brea Winckler, Karina Carvalho Donis, Ana Carolina Brusius-Facchin
Publikováno v:
Clinical geneticsREFERENCES. 98(2)
Diagnostic yield of genetic studies for Charcot-Marie-Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the United States and Europe. We aimed to evaluate the performance of two mol